A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24755



Internal ID15481780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:130464..130464hg38UCSC Ensembl
Outerchr19:130349..131572hg38UCSC Ensembl
Innerchr19:130464..130464hg19UCSC Ensembl
Outerchr19:130349..131572hg19UCSC Ensembl
Innerchr19:81464..81464hg18UCSC Ensembl
Outerchr19:81349..82572hg18UCSC Ensembl
Innerchr19:81464..81464hg17UCSC Ensembl
Outerchr19:81349..82572hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
hg171224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA10839
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv24755
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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